Incidental Mutation 'IGL01318:Htr5a'
ID 73932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr5a
Ensembl Gene ENSMUSG00000039106
Gene Name 5-hydroxytryptamine (serotonin) receptor 5A
Synonyms Htr5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL01318
Quality Score
Status
Chromosome 5
Chromosomal Location 28047147-28060086 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28047742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 99 (V99A)
Ref Sequence ENSEMBL: ENSMUSP00000038884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036227]
AlphaFold P30966
Predicted Effect probably benign
Transcript: ENSMUST00000036227
AA Change: V99A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038884
Gene: ENSMUSG00000039106
AA Change: V99A

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
low complexity region 41 56 N/A INTRINSIC
Pfam:7tm_1 57 338 4.1e-71 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]
PHENOTYPE: The are conflicting reports about mice with homozygous null alleles regarding increased exploratory behavior and an abnormal exploratory behavior response to LSD. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b T C 15: 90,112,592 (GRCm39) probably benign Het
Ambn T C 5: 88,608,554 (GRCm39) probably benign Het
Asap2 A G 12: 21,297,296 (GRCm39) D585G probably null Het
Chaf1a G T 17: 56,366,336 (GRCm39) probably benign Het
Ddhd1 A G 14: 45,854,008 (GRCm39) S443P probably damaging Het
Dlk2 A G 17: 46,613,390 (GRCm39) E215G probably damaging Het
Efhd2 T C 4: 141,587,176 (GRCm39) N202S probably benign Het
Gkap1 A T 13: 58,384,853 (GRCm39) I308K probably damaging Het
Gm9848 T A 13: 113,244,774 (GRCm39) noncoding transcript Het
Hmcn1 G A 1: 150,594,991 (GRCm39) T1826I probably damaging Het
Inha T G 1: 75,486,572 (GRCm39) F289C probably damaging Het
Kcna3 T C 3: 106,945,294 (GRCm39) V519A probably benign Het
Kcnma1 A T 14: 23,364,390 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,747 (GRCm39) V292A possibly damaging Het
Magea13 T A X: 57,964,829 (GRCm39) I196N probably damaging Het
Map2k4 A G 11: 65,647,089 (GRCm39) probably benign Het
Mfap2 G T 4: 140,742,856 (GRCm39) A175S possibly damaging Het
Milr1 G A 11: 106,656,071 (GRCm39) A114T possibly damaging Het
Mogs G T 6: 83,095,558 (GRCm39) V792F probably damaging Het
Nt5dc3 T A 10: 86,661,089 (GRCm39) M418K possibly damaging Het
Or5b12 A G 19: 12,897,490 (GRCm39) L61P probably damaging Het
Or7d10 A G 9: 19,832,054 (GRCm39) E183G probably benign Het
Or8h8 A T 2: 86,753,293 (GRCm39) N194K probably benign Het
Osbpl10 G A 9: 115,061,190 (GRCm39) W756* probably null Het
Pgam5 A G 5: 110,413,391 (GRCm39) Y235H probably damaging Het
Pgm5 G T 19: 24,793,842 (GRCm39) A274E probably damaging Het
Prex1 C A 2: 166,411,260 (GRCm39) probably benign Het
Prps1l1 A T 12: 35,035,377 (GRCm39) N164I probably benign Het
Ralbp1 C A 17: 66,171,277 (GRCm39) R232L probably damaging Het
Rnaseh2a C T 8: 85,691,752 (GRCm39) probably benign Het
Stard9 A T 2: 120,529,200 (GRCm39) H1819L possibly damaging Het
Stom T A 2: 35,226,889 (GRCm39) I15F probably benign Het
Tasor2 A C 13: 3,625,067 (GRCm39) S946A possibly damaging Het
Tph1 T G 7: 46,314,662 (GRCm39) T22P probably damaging Het
Uqcrfs1 A G 13: 30,724,904 (GRCm39) I212T probably benign Het
Ush2a T C 1: 188,546,550 (GRCm39) I3442T probably benign Het
Vinac1 C A 2: 128,880,622 (GRCm39) V435L probably benign Het
Vmn2r113 A G 17: 23,177,309 (GRCm39) I698V probably benign Het
Vmn2r75 T C 7: 85,814,774 (GRCm39) I240V probably benign Het
Wdr17 T C 8: 55,125,585 (GRCm39) T432A probably damaging Het
Other mutations in Htr5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Htr5a APN 5 28,047,463 (GRCm39) missense probably damaging 1.00
IGL02552:Htr5a APN 5 28,047,958 (GRCm39) missense probably benign 0.00
IGL02636:Htr5a APN 5 28,047,658 (GRCm39) missense probably damaging 1.00
R1023:Htr5a UTSW 5 28,047,996 (GRCm39) missense possibly damaging 0.81
R1998:Htr5a UTSW 5 28,055,887 (GRCm39) missense possibly damaging 0.95
R1999:Htr5a UTSW 5 28,055,887 (GRCm39) missense possibly damaging 0.95
R2000:Htr5a UTSW 5 28,055,887 (GRCm39) missense possibly damaging 0.95
R4134:Htr5a UTSW 5 28,047,690 (GRCm39) missense probably benign 0.01
R4135:Htr5a UTSW 5 28,047,690 (GRCm39) missense probably benign 0.01
R5378:Htr5a UTSW 5 28,055,993 (GRCm39) missense probably damaging 1.00
R5421:Htr5a UTSW 5 28,055,985 (GRCm39) missense possibly damaging 0.81
R6440:Htr5a UTSW 5 28,055,870 (GRCm39) missense probably damaging 1.00
R7571:Htr5a UTSW 5 28,047,893 (GRCm39) nonsense probably null
R7992:Htr5a UTSW 5 28,055,995 (GRCm39) missense probably damaging 1.00
R9068:Htr5a UTSW 5 28,055,799 (GRCm39) missense probably benign 0.00
R9651:Htr5a UTSW 5 28,047,838 (GRCm39) missense possibly damaging 0.74
R9652:Htr5a UTSW 5 28,047,838 (GRCm39) missense possibly damaging 0.74
R9653:Htr5a UTSW 5 28,047,838 (GRCm39) missense possibly damaging 0.74
RF009:Htr5a UTSW 5 28,047,859 (GRCm39) missense probably damaging 1.00
Z1189:Htr5a UTSW 5 28,056,032 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07